{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10118266",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.22G>T (p.Gly8Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=849067[alleleid]",
        "alleleId": 849067,
        "preferredName": "NM_006767.4(LZTR1):c.22G>T (p.Gly8Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/859758",
        "RCV": [
          "RCV001065942",
          "RCV002429718",
          "RCV003467830"
        ],
        "variationId": 859758
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-21336682-G-T",
        "id": "22-21336682-G-T",
        "variant": "22:21336682 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21336682G>T?assembly=hg19",
        "id": "chr22:g.21336682G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20982393G>T?assembly=hg38",
        "id": "chr22:g.20982393G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/575193991",
        "rs": 575193991
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-21336682-G-T?dataset=gnomad_r2_1",
        "id": "22-21336682-G-T",
        "variant": "22:21336682 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20982393-G-T?dataset=gnomad_r3",
        "id": "22-20982393-G-T",
        "variant": "22:20982393 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20982393-G-T?dataset=gnomad_r4",
        "id": "22-20982393-G-T",
        "variant": "22:20982393 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 20982393,
          "referenceAllele": "G",
          "start": 20982392
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20982393G>T",
        "CM000684.2:g.20982393G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 21336682,
          "referenceAllele": "G",
          "start": 21336681
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21336682G>T",
        "CM000684.1:g.21336682G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 19666682,
          "referenceAllele": "G",
          "start": 19666681
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19666682G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5125,
          "referenceAllele": "G",
          "start": 5124
        }
      ],
      "hgvs": [
        "NG_034193.1:g.5125G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "G",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:p.Gly8Trp",
        "hgvsWellDefined": "ENSP00000515073.1:p.Gly8Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000493460.2:n.97G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63,
          "referenceAllele": "G",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000645935.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493479.1:p.Gly8Trp",
        "hgvsWellDefined": "ENSP00000493479.1:p.Gly8Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:p.Gly8Trp",
        "hgvsWellDefined": "ENSP00000496779.1:p.Gly8Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.22G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.22G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Gly8Trp"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Gly8Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:p.Gly8Trp",
        "hgvsWellDefined": "ENSP00000215739.8:p.Gly8Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000414985.5:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397247.1:p.Gly8Trp",
        "hgvsWellDefined": "ENSP00000397247.1:p.Gly8Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 71,
          "referenceAllele": "G",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000443265.5:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406466.1:p.Gly8Trp",
        "hgvsWellDefined": "ENSP00000406466.1:p.Gly8Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 346,
          "endIntronDirection": "-",
          "endIntronOffset": 633,
          "referenceAllele": "G",
          "start": 346,
          "startIntronDirection": "-",
          "startIntronOffset": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.347-634G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000493460.1:n.97G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330604"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139721113",
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Gly8Trp",
        "hgvsWellDefined": "NP_006758.2:p.Gly8Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139721113",
      "coordinates": [
        {
          "allele": "T",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Gly8Trp",
        "hgvsWellDefined": "NP_006758.2:p.Gly8Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.22G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.22G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Gly8Trp"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Gly8Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}